目的鉴定一个富脯氨酸跨膜蛋白2(proline-rich transmembrane protein 2,PRRT2)相关发作性疾病家系的PRRT2基因突变类型,并分析其临床表型特点。方法该家系有3代7人,其中5人(先证者及其母亲、哥哥、舅舅、外婆)有抽搐史。对上述5名有抽...目的鉴定一个富脯氨酸跨膜蛋白2(proline-rich transmembrane protein 2,PRRT2)相关发作性疾病家系的PRRT2基因突变类型,并分析其临床表型特点。方法该家系有3代7人,其中5人(先证者及其母亲、哥哥、舅舅、外婆)有抽搐史。对上述5名有抽搐史的家系成员及先证者的父亲采集外周静脉血,提取全血基因组DNA,进行全外显子测序。根据全外显子测序结果筛选出的致病基因突变位点(位于PRRT2基因第2外显子),采用Sanger测序法对每个家系成员的目标位点进行验证。结果该家系5例患者中,2例符合良性家族性婴幼儿癫痫诊断,1例符合发作性运动诱发性运动障碍诊断,2例符合热性惊厥诊断。5例患者均存在PRRT2基因第2外显子c.649dup C(p.R217Pfs*8)杂合突变,先证者的父亲未发现该突变位点。结论该家系存在PRRT2基因c.649dupC杂合突变,导致PRRT2相关发作性疾病。展开更多
Background Perivesical fat invasion is considered as an important prognostic factor for bladder cancer. However, the predictive role of perivesical fat invasion in invasive bladder cancer prognosis has never been repo...Background Perivesical fat invasion is considered as an important prognostic factor for bladder cancer. However, the predictive role of perivesical fat invasion in invasive bladder cancer prognosis has never been reported in Chinese patients. The aim of the study was to assess the predictive value of perivesical fat invasion for prognoses of T2 and T3 bladder cancer in Chinese patients. Methods One hundred and fifty-one patients who underwent radical cystectomy for pT2-3NOM0 invasive bladder cancer from 2001 to 2007 were studied. Cancer-specific survival rate （CSS） and recurrence-free survival rate （RFS） were compared between the pT2 and pT3 patient groups. Other clinicopathological parameters were also retrospectively analyzed by univariate and multivariate analyses to identify the independent predictor for the prognoses of this cohort. Results Average patient age at surgery was 58 years. Ninety （60.3%） patients had grade I and II disease. During follow-up （median 66 months）, 27 patients （17.9%） had tumor recurrence and 18 （11.9%） died of bladder cancer. In the univariate analysis, the CSS and RFS curves between T2 and T3 patients showed no significant difference （P=-0.756 and 0.354, respectively）. Multivariate Cox regression showed that histological classification and grade were independent predictors for CSS, while grade was the sole independent predictor for RFS. Conclusions For this group of Chinese patients, perivesical fat invasion did not demonstrate a statistically significant difference in prognosis between T2 and T3 patients. Nontransitional cell carcinoma （non-TCC） and high-grade patients had short CSS, and patients with high-qrade tumor had higher recurrent risk.展开更多
文摘目的鉴定一个富脯氨酸跨膜蛋白2(proline-rich transmembrane protein 2,PRRT2)相关发作性疾病家系的PRRT2基因突变类型,并分析其临床表型特点。方法该家系有3代7人,其中5人(先证者及其母亲、哥哥、舅舅、外婆)有抽搐史。对上述5名有抽搐史的家系成员及先证者的父亲采集外周静脉血,提取全血基因组DNA,进行全外显子测序。根据全外显子测序结果筛选出的致病基因突变位点(位于PRRT2基因第2外显子),采用Sanger测序法对每个家系成员的目标位点进行验证。结果该家系5例患者中,2例符合良性家族性婴幼儿癫痫诊断,1例符合发作性运动诱发性运动障碍诊断,2例符合热性惊厥诊断。5例患者均存在PRRT2基因第2外显子c.649dup C(p.R217Pfs*8)杂合突变,先证者的父亲未发现该突变位点。结论该家系存在PRRT2基因c.649dupC杂合突变,导致PRRT2相关发作性疾病。
文摘Background Perivesical fat invasion is considered as an important prognostic factor for bladder cancer. However, the predictive role of perivesical fat invasion in invasive bladder cancer prognosis has never been reported in Chinese patients. The aim of the study was to assess the predictive value of perivesical fat invasion for prognoses of T2 and T3 bladder cancer in Chinese patients. Methods One hundred and fifty-one patients who underwent radical cystectomy for pT2-3NOM0 invasive bladder cancer from 2001 to 2007 were studied. Cancer-specific survival rate （CSS） and recurrence-free survival rate （RFS） were compared between the pT2 and pT3 patient groups. Other clinicopathological parameters were also retrospectively analyzed by univariate and multivariate analyses to identify the independent predictor for the prognoses of this cohort. Results Average patient age at surgery was 58 years. Ninety （60.3%） patients had grade I and II disease. During follow-up （median 66 months）, 27 patients （17.9%） had tumor recurrence and 18 （11.9%） died of bladder cancer. In the univariate analysis, the CSS and RFS curves between T2 and T3 patients showed no significant difference （P=-0.756 and 0.354, respectively）. Multivariate Cox regression showed that histological classification and grade were independent predictors for CSS, while grade was the sole independent predictor for RFS. Conclusions For this group of Chinese patients, perivesical fat invasion did not demonstrate a statistically significant difference in prognosis between T2 and T3 patients. Nontransitional cell carcinoma （non-TCC） and high-grade patients had short CSS, and patients with high-qrade tumor had higher recurrent risk.
